Dados do Trabalho

Título

CASE REPORT: NEUROGENIC BLADDER ASSOCIATED WITH CHROMOSOME 10Q26 DELETION SYNDROME

Apresentação do caso

This is a case report regarding A.B.M.B., 3 years old, that by the age of 5-months-old, a female baby, the second child of healthy and unrelated parents, was admitted 3 times due to febrile urinary tract infection in a tertiary pediatrics hospital. All episodes were well documented with a positive urine culture. During the last hospitalization she had a seizure secondary to a urinary tract sepsis. After discharge, she was referred to the pediatric nephrology out-patient service. During thorough investigation, a Renal ultrasound showed bilateral hydronephrosis and a thick-walled bladder; and a Cystourethrogram showed an enlarged bladder with lobulated and trabeculated walls and sparse small diverticula, suggesting straining or dysfunctional bladder. During clinical investigation of the etiologic cause, other features were observed including craniofacial anomalies (trigonocephaly, deep eye sockets, bilateral thick overfolded helices, slight facial asymmetry, broad nasal bridge), developmental delay and malnutrition. The patient was referred to Genetics service and further tests showed a Karyotype 46, XX. Array-CGH Analysis showed deletion 10q26.3 (131212109_135426386) x1 and deletion 14q23.3 (67041152_67123422) x1. The 10q26.3 microdeletion was classified as potentially pathogenic.

Discussão

The 10q26 deletion syndrome is a rare heterogeneous disorder, with less than 1 case per million people. The most common phenotypic characteristics include pre-and/or postnatal growth retardation, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy and facial appearance consisting of broad nasal bridge with prominent nose, low-set malformed ears and strabismus. Some characteristics are occasionally observed, including limb, cardiac and urogenital anomalies such as neurogenic bladder. Early diagnosis is important so physicians can be aware of possible complications and comorbidities and provide early intervention.

Comentários finais

The 10q26 deletion syndrome is a condition that results from the deletion of a small piece on the long (q) arm of chromosome 10, designated 10q26. The signs and symptoms of 10q26 deletion syndrome vary widely. Although genetic tests are becoming more accessible, we still need to pay special attention to unusual presentations and identify potentially pathological variances and dysmorphic features so we can establish more specific diagnosis and more adequate treatment, avoiding complications.

Referências (se houver)

Vera‐Carbonell, Ascensión, et al. "Clinical comparison of 10q26 overlapping deletions: delineating the critical region for urogenital anomalies." American Journal of Medical Genetics Part A 167.4 (2015): 786-790.
Lin, Shaobin et al. “Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature.” Molecular medicine reports vol. 14,6 (2016): 5134-5140. doi:10.3892/mmr.2016.5864
“Distal 10q deletion syndrome” National Library of Medicine. Acesso em 24/05/2023 https://www.ncbi.nlm.nih.gov/medgen/?term=10q26+deletion+syndrome
Ogata, Tsutomu, et al. "Genetic evidence for a novel gene (s) involved in urogenital development on 10q26." Kidney international 58.6 (2000): 2281-2290.

Palavras Chave

10q26 deletion syndrome; Pediatrics; oligo array-CGH analysis; neurogenic bladder

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Eu, Laura Reis Vilela, autora responsável pela submissão do manuscrito intitulado "CASE REPORT: NEUROGENIC BLADDER ASSOCIATED WITH CHROMOSOME 10Q26 DELETION SYNDROME" e todos os coautores que aqui se apresentam (Camila Amaral Venuto Anunciação; Pedro Lemgruber Xavier Mattoso Pavie; Sarah Reis Vilela), declaramos que NÃO POSSUÍMOS, CONFLITO DE INTERESSES de ordem: pessoal, comercial, acadêmico, político ou financeiro no manuscrito.

Área

Neurogenética